(Q50537310)

15 March 2018

title

Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome. (English)

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15 March 2018

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Smeets HJ

1

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15 March 2018

Melenhorst JJ

2

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15 March 2018

Lemmink HH

3

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15 March 2018

Schröder CH

4

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15 March 2018

Nelen MR

5

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15 March 2018

Zhou J

6

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15 March 2018

Hostikka SL

7

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15 March 2018

Tryggvason K

8

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15 March 2018

Ropers HH

9

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15 March 2018

Jansweijer MC

10

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15 March 2018

language of work or name

English

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publication date

1 July 1992

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15 March 2018

published in

Kidney International

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15 March 2018

volume

42

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15 March 2018

page(s)

83-88

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15 March 2018

issue

1

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15 March 2018

https://scigraph.springernature.com/pub.10.1038/ki.1992.264

exact match

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cites work

Genetic heterogeneity of Alport syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.264

7 January 2021

Localization of the gene for X-linked Alport's syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.264

7 January 2021

Localization of the gene for classic Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.264

7 January 2021

Recurrent primary disease and de novo nephritis following renal transplantation

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.264

7 January 2021

Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.264

7 January 2021

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.264

7 January 2021

Single base mutation in α5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.264

7 January 2021

Major rearrangements in the α5(IV) collagen gene in three patients with alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.264

7 January 2021

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.264

7 January 2021

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.264

7 January 2021

The development of anti-glomerular basement membrane nephritis in two children with Alport's syndrome after renal transplantation: characterization of the antibody target

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.264

7 January 2021

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.264

7 January 2021

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.264

7 January 2021

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.264

7 January 2021

Characterization of the 3' half of the human type IV collagen alpha 5 gene that is affected in the Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.264

7 January 2021

Optimal conditions for directly sequencing double-stranded PCR products with sequenase

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.264

7 January 2021

Alport syndrome, basement membranes and collagen

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.264

7 January 2021

Osteogenesis imperfecta: translation of mutation to phenotype

1 reference

https://api.crossref.org/works/10.1038%2FKI.1992.264

7 January 2021

Identifiers

DOI

10.1038/KI.1992.264

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15 March 2018

Dimensions Publication ID

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1 reference

15 March 2018